Wilson Disease—Genomic Complexities Yet to Be Unveiled!
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-022-04428-1.pdf
Reference8 articles.
1. Bhattacharya K, Thankappan B. Wilson’s disease update: An Indian perspective. Ann Indian Acad Neurol. 2022;25:43–53.
2. Medici V, LaSalle JM. Genetics and epigenetic factors of Wilson disease. Ann Transl Med. 2019;7:S58.
3. Chang IJ, Hahn SH. The genetics of Wilson disease. Handb Clin Neurol. 2017;142:19–34.
4. Nagral A, Mallakmir S, Garg N, et al. Genomic variations in ATP7B gene in Indian patients with Wilson disease. Indian J Pediatr. 2022. https://doi.org/10.1007/s12098-022-04250-9.
5. Aggarwal A, Chandhok G, Todorov T, et al. Wilson disease mutation pattern with genotype-phenotype correlations from western India: confirmation of p.C271* as a common indian mutation and identification of 14 novel mutations. Ann Hum Genet. 2013;77:299–307.
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